Ataxia telangiectasia type 1 syndrome in children

Ataxia telangiectasia syndrome (ataxia telangiectasia syndrome) is also known as ataxia telangiectasia, ataxia capillary telangiectasia immunodeficiency (immunodeficiency with ataxia telangiectasia), Louis-Bar syndrome, Boder- Sedgwick syndrome and others. Congenital defects in the skin, eyes, nervous system, and immune function are the hallmarks of this disease. The disease is a chronic disease characterized by progressive ataxia of the cerebellum, telangiectasia of the eyes and face, and recurrent respiratory infections. Autosomal recessive. More women than men. Is one of the most common causes of progressive ataxia in children under the age of 10. Svuaba and Henner (1926) first reported. There are also many cases reported in China (Zhang Wuchang et al., 1998). This disease is a DNA repair deficiency disease with xeroderma pigmentosum and Cockayne syndrome.

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